Microphthalmia/coloboma 4

Preferred Label : Microphthalmia/coloboma 4;

Symbol : MCOPCB4;

CISMeF acronym : MCOPCB4;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Microphthalmia with colobomatous cyst;

Inheritance : Autosomal recessive;

Prefixed ID : 251505;

Details

Origin ID

251505;

UMLS CUI

C1855053;

Automatic exact mappings (from CISMeF team)
- Microphthalmos co-occurrent with congenital ocular coloboma (disorder) [SNOMED CT concept]
Broader ORDO disease(s)
- Colobomatous microphthalmia [ORDO Disease]
Currated CISMeF NLP mapping
- microphthalmia, isolated, with coloboma 4 [MeSH concept]
- microphthalmia, isolated, with coloboma 4 [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coloboma [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Orbital cyst [HPO term]
ORDO concept(s)
- Colobomatous microphthalmia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microphthalmia, isolated, with coloboma 4 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 4 [MeSH concept]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients